Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Val14Ile (p.V14I)
(
ENST00000256078.10,
ENST00000311936.8,
ENST00000556131.2,
ENST00000557334.6,
ENST00000685328.1,
ENST00000686969.1,
ENST00000688940.1,
ENST00000692768.1,
ENST00000693229.1 )
KRAS p.Val14Ile (p.V14I) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- Noonan syndrome 3
- Source Database
- ClinVar
- Description
- NM_004985.5(KRAS):c.40G>A (p.Val14Ile) AND Noonan syndrome 3
- ClinVar Allele ID
- 27628
- ClinVar RefSeq Alternation Syntax
- NM_001369787.1:c.40G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369786.1:c.40G>A
- ClinVar RefSeq Alternation Syntax
- NM_033360.4:c.40G>A
- ClinVar RefSeq Alternation Syntax
- NM_004985.5:c.40G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013420
- ClinVar Disease
- Noonan syndrome 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 16474405
Drugs